Dystonia Dialogue NEWSLETTER of the DYSTONIA MEDICAL RESEARCH FOUNDATION Spring 2021

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Dystonia Dialogue NEWSLETTER OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION Spring 2021 | Volume 44 • No. 1 Shining a Light onDystonia ward fo For r Ev th er a y P Fa a m d n il A y

4 7 12 Dystonia Advocates What is a Physical Medicine Journeys in Parenthood: Rescue DOD Research & Rehabilitation Physician? Stories from Parents Funding with Dystonia The Dystonia Dialogue is the magazine of the Dystonia Medical Research Foundation (DMRF). It is published three times a year to provide informa- Inside this Issue tion to individuals affected by dystonia, family members, and supporters of the DMRF.

Dystonia Advocates Rescue Critical The Dystonia Medical Research Foundation (DMRF) is a non-profit, 501c(3) organization founded in 1976. The mission is to advance research for more 4 Source of DOD Research Funding effective treatments and a cure, to promote awareness and education, Volunteer Advocates Needed to Support and to support the well being of affected individuals and families. Legislative Agenda in 2021 The Dystonia Dialogue reports on developments in dystonia research and treatments but does not endorse or recommend any of the therapies discussed. Individuals are urged to consult a physician with questions Dystonia Community Hard Hit and concerns about their symptoms and care. 5 by Covid-19 Pandemic Staff Dystonia Medical Research Highlights from a DMRF Survey Janet L. Hieshetter Foundation Board of Directors Executive Director Samuel Belzberg Veronica Diaz (1928–2018) Co-Founder Manager of Community Engagement Frances Belzberg What is a Physical Medicine & Debbie Durrer Honorary Chairperson & Co-Founder 7 Rehabilitation Physician? Director of Development Mahlon R. DeLong, MD Jessica Feeley Scientific Director Emeritus, Insights from John McGuire, MD Director of Communications Lifetime Honorary Director & Education Stanley Fahn, MD Jennifer McNabola Lifetime Honorary Director Journeys into Parenthood Director of Finance Art Kessler, President Stories from Parents with Dystonia Martha Murphy Richard A. Lewis, MD 12 Information Coordinator & Vice President of Science Brain Bank Liaison Barbara Kessler Emma Pinto Vice President of Awareness Personal Profile Associate Director of Development & Education 18 Meet Amber Hall Jody Roosevelt Karen K. Ross, PhD Science and Technology Manager Vice President of Support Carole Rawson Chief Scientific Advisor Vice President of Public Policy Jan Teller, MA, PhD Ronald Hersh Vice President of Development Mark Rudolph, Treasurer On the Cover: Dystonia Dialogue Since 1976, the Dystonia Medical Research Editorial Board Sandra Weil, Network Liaison Barbara Kessler, Chair Jon Davis, Director Foundation (DMRF) has led a global effort Ed Cwalinski John Downey, Director to advance dystonia research and empower Paul Kavanaugh Donna Driscoll, Director patients and families. The DMRF brought Dee Linde Marilynne Herbert, Director dystonia out of obscurity and into the spotlight Allison London Erwin Jackson, PhD, Director Anneliese Ornelis of neuroscience and movement disorders Stefanie Jackson, Director Diane Rudolph Brian Keane, Director research. Thanks to our generous supporters, Paula Schneider Dennis Kessler, Director we continue to uncover dystonia’s mysteries Rosalie Lewis, Director with every new research discovery. For 45 Dystonia Medical Research Foundation Allison London, Director years, the DMRF has helped light a path forward for individuals and One East Wacker Drive Liz Rawson, Director families who don’t know where to turn after a dystonia diagnosis. Suite 1730 Diane Rudolph, Director No one has to face dystonia alone. See page 10 for more information Chicago, Illinois 60601-1980 Paula Schneider, Director Phone 312 755 0198 Pamela Sloate, JD, Director on the DMRF’s programs and accomplishments. 800 377 DYST (3978) Web www.dystonia-foundation.org Joel S. Perlmutter, MD Scientific Director, ex officio The Dystonia Dialogue is supported by an educational grant from Billy McLaughlin Printed in the USA. © Dystonia Medical Awareness Ambassador, ex officio Revance Therapeutics. Research Foundation Janet Hieshetter Executive Director, ex officio

2 DYSTONIA DIALOGUE Foundation Update

This year marks the 45th anniversary of the founding of the DMRF. The milestone is an opportunity to reflect on the Foundation’s many important accomplishments, but it is not an occasion we celebrate. The DMRF is working hard to close its doors for all the right reasons: because a cure is discovered and no person or family is ever again burdened by dystonia. Thanks to the commitment of generous friends who have supported our service to the community, we know this day is coming.

Art Kessler As long as individuals are diagnosed with dystonia, the DMRF will continue pushing the research President forward and attending to the needs of affected individuals and families. We know our community struggles with access to effective treatment, social isolation, and the societal challenges so many with disabilities and chronic health conditions face on a daily basis. The Covid-19 pandemic has exacerbated these challenges for many, and we are redoubling efforts to address them in our programs and activities.

Your support allows DMRF to sustain our research programs while continuing to offer the free support and education programs that people with dystonia and their families need now.

Janet L. Hieshetter It is more important than ever for the dystonia community to have a voice in federal policy and Executive Director legislation matters. DMRF is calling on the community to join the Dystonia Advocacy Network (DAN) to lend your stories and experience to help Members of Congress understand what dystonia is and how it changes lives. Learn how you can become a dystonia advocate and participate in efforts throughout the year on page 5.

It is a privilege for the DMRF leadership to be of service to the dystonia community, and we are only able to do so because of generous people like you. Thank you for being a part of the DMRF.

Art Kessler Janet L. Hieshetter President Executive Director

Renew Your Membership or Join Today dystonia-foundation.org/membership Thank you for your support!

SPRING 2021 3 Dystonia Advocates Rescue Critical Source of DOD Research Funding Volunteer Advocates Needed to Support Legislative Agenda

Dystonia advocates acted swiftly to protect a critical source of research funding for dystonia investigators. In late 2020, the Dystonia Advocacy Network (DAN) was alerted that dystonia was not included in the list of conditions eligible for study through the Department of Defense (DOD) Peer-Reviewed Medical Research Program (PRMRP).

Unlike the National Institutes of Health new members following the start of (NIH), the medical conditions included every Congress. in the PRMRP must be specifically recommended by lawmakers each Carole encourages individuals with year. Because of the advocacy of the all types of dystonia, as well as family DAN, dystonia has been included members, to consider becoming a on this exclusive list of conditions dystonia advocate: “Through our annually since 2010, resulting in more collective voices, we can unlock much- than $17 million awarded to dystonia needed funding for research and new investigators. treatments. When you share your story, it helps our legislators put a face to our “As a community, it’s vital that we daily struggles and our dreams for the take time to advocate for dystonia future. We are a powerful force when to ensure that our representatives we all join together.” not only understand the disorder but understand the importance of funding Carole Rawson and daughter Liz The DAN is a coalition of patient Rawson serve on DMRF’s Board research to find a cure,” explained of Directors. organizations focused on issues rele- Carole Rawson, Chair of the DMRF vant to the dystonia patient community. Public Policy Committee and newly from our action alert, dystonia was Many of these issues are anchored in appointed Chair of the DAN. the only condition added to the list!” advocating for federal research funding said Carole. and accessible, affordable treatment. In response to learning that dystonia was not on the PRMRP list of conditions, DAN held Virtual Advocacy Day on Victories for dystonia advocates the DAN mobilized dystonia advocates March 3, 2021 to launch plans for the include increased dystonia research in key districts. Advocates contacted coming year. Hundreds of dystonia funding for the NIH, new dystonia their Members of Congress and advocates contacted their US Senators research funding through the DOD, requested that dystonia be included in and US Representatives to educate the first-ever Congressional Briefing the PRMRP. Thanks to their quick action, them about dystonia and the needs on Dystonia, protecting access to dystonia was added as a condition of the dystonia community. In advance deep brain stimulation and botulinum eligible for funding, avoiding a poten- of Advocacy Day, every newly elected neurotoxin therapies, and safeguards tially devastating disruption to dystonia Member of Congress received a person- for new biologic therapies. research supported by DOD. “As a alized letter and information about result of the overwhelming response dystonia. The DAN reaches out to

4 DYSTONIA DIALOGUE Dystonia Community Hard Hit by Covid-19 Pandemic

Nearly 450 people responded to a DMRF survey seeking insights into how the Covid-19 pandemic is impacting the dystonia community. The following are highlights from the results.

How concerned do you feel for How has the pandemic affected DMRF is proud to provide your health and safety during your dystonia symptoms? staff support for the DAN. the pandemic? Improved a lot 1% Very concerned 44% Improved a little 6% Benign Essential Blepharospasm Somewhat concerned 35% Has not changed 36% Research Foundation (BEBRF) A little concerned 17% A little worse 38% Not concerned 4% A lot worse 19% Dystonia Medical Research Foundation (DMRF) How concerned do you feel for How has the pandemic affected the health and safety of your your mental health? National Spasmodic family and loved ones during Dysphonia Association (NSDA) Improved a lot 1% the pandemic? Improved a little 4% Very concerned 55% National Spasmodic Has not changed 34% Somewhat concerned 36% Torticollis Association (NSTA) A little worse 44% A little concerned 8% A lot worse 17% Not concerned 1% How You Can Help By becoming a dystonia advocate, 56% of survey participants Top five most important things you can have a powerful effect on the experienced canceled or delayed DMRF should be doing for people laws and policies that affect your life healthcare. during the pandemic: and the lives of others in the dystonia Of these, 70% report canceled 1. Offering dystonia research community. To get started: or delayed dystonia-related updates • Sign up to receive DAN action alerts healthcare. via email at: dystonia-foundation.org/ 2. Offering information and advocacy 68% of survey participants have resources about emotional and mental health • When you receive a DAN action had telemedicine appointments. alert, respond promptly by calling or Of those, only 6% were not satisfied 3. Offering information and sending an email to your legislators. with their telemedicine experience. resources about self-care The DAN makes it easy. Every alert 4. Promoting awareness of how includes clear, simple instructions to How has the pandemic affected the pandemic is impacting take action. your overall physical health? Improved a lot 3% dystonia community For more information on the DAN and Improved a little 8% 5. Offering updates on healthcare becoming a dystonia advocate, visit Has not changed 40% legislation and policy dystonia-foundation.org/advocacy or A little worse 36% contact the DMRF at dystonia@dystonia- A lot worse 13% foundation.org or 312-755-0198.

SPRING 2021 5 Dystonia, Depression & Anxiety

Dystonia is a neurological disorder that causes excessive, involuntary muscle contractions. These muscle contractions result in abnormal muscle movements and body postures, DYSTONIA making it difficult for individuals to control their movements. MOTOR SYMPTOMS Fixed postures

Abnormal People who live with dystonia may also experience a range Tremor of non-motor symptoms that dramatically impact daily muscle contractions activities and quality of life.

Depression is the #1 cause Sensory abnormalities of disability in the US Pain Balance deficits Fatigue Sleep disturbances Fear of falls Anxiety and depression are among the most common Daytime sleepiness Gait deficits non-motor issues seen in individuals with dystonia. Vision issues Delayed stepping reactions Studies have shown that as many as 70% of individuals Psychiatric comorbidities Anxiety Depression with dystonia will experience depression and/or anxiety Catastrophizing Stigma over their lifetime. Fear of movement NON-MOTOR Self efficacy Anxiety and depression significantly worsen disability and SYMPTOMS quality of life in dystonia.

The relationship between dystonia, depression, and anxiety The hallmark symptoms of dystonia are involuntary is complex. Research demonstrates that in some cases, movements, but individuals often deal with a range of less obvious, non-motor symptoms. depression and anxiety may develop in response to dystonia. In other cases, they occur before the onset of dystonia and To locate a mental health professional for help, ask your appear to be part of the dystonia syndrome. doctor, health insurance provider, or a professional organization such as the Anxiety and Depression Association Evaluating for and treating co-existing depression and (adaa.org). Or ask for recommendations from family anxiety disorders is an important part of a holistic approach and friends. to treating dystonia.

Adapted from the webinar “Dystonia is More than a Move- Reducing movement symptoms associated with dystonia ment Disorder: Depression & Anxiety” with Brian Berman, MD, may not always alleviate depression or anxiety. Director of Virginia Commonwealth University’s Parkinson’s and Movement Disorders Center. The webinar is available Treatment options for depression and anxiety depend on for viewing at dystonia-foundation.org/living-dystonia/ the individual needs of the patient. Interventions may mental-health/ include lifestyle adjustments, self-help activities, cognitive behavioral therapy, other types of counseling, and/or a Image adapted from a figure in Bradnam, L.V., Meiring, R.M., range of intensive psychological therapies. Boyce, M. et al. Neurorehabilitation in dystonia: a holistic perspective. J Neural Transm (2020).

6 DYSTONIA DIALOGUE What is a Physical Medicine & Rehabilitation Physician?

“We’re experts in the diagnosis, pathophysiology, and management of any disabling condition,” explained John McGuire, MD, a physical medicine and rehabilitation (PM&R) specialist and Director of Stroke Rehabilitation & Spasticity Management at Froedtert Medical College of Wisconsin.

PM&R physicians evaluate and treat patients with physical When assessing a patient, careful consideration is made to and cognitive impairments resulting from musculoskeletal overall wellness. Dr. McGuire explained: “Whatever ails you, if conditions (neck or back pain, or injury), neurological you’re not eating right, sleeping right, if you’re not exercising, conditions (stroke, brain injury, or spinal cord injury), and no matter what your problem is, that’s going to create more other medical conditions. “We approach all these conditions problems. We have to look at everything to get your life in the same light,” said Dr. McGuire, “as far as asking, what back together.” are your deficits and how can we get you as functional as possible?” Dr. McGuire was trained in stroke rehabilitation and electro- myography (EMG). He was an early leader in the therapeutic PM&R physicians are also known as physiatrists. Some in use of botulinum neurotoxin and intrathecal baclofen. This the field avoid using this term due to the frequent confusion exposed him to patients with dystonia and spasticity resulting with psychiatrists and psychiatry. from stroke, cerebral palsy, and other conditions. “I love working with my movement disorders colleagues. We all The field of PM&R emerged after World War I and World work together,” said Dr. McGuire. “If a patient turns out to War II in response to hundreds of thousands of soldiers be more in the dystonia sphere, I may send them to the returning from service with brain injuries, spinal cord injuries, neurologist; if the patient is more in the spasticity sphere, amputations, and other traumatic injuries. Dr. McGuire they may send them to me. There’s this cross fertilization explained: “Basically the surgeon would piece them back with all these patients.” together and now they have to figure out how are they going to dress themselves, feed themselves, walk, and get The nature of PM&R requires keen understanding of back to work and doing the things they need to do. Our human anatomy and body mechanics. However, McGuire goal is to improve function and reduce pain, basically a stressed that not all PM&R physicians can be expected to non-surgical approach to overall well-being that goes treat movement disorders. Credentials that lend PM&R beyond the medical model. It’s more of a holistic approach physicians to expertise in dystonia and movement disorders to all the ways that someone’s life is impacted by a include certification in electrodiagnostic medicine (EMG) and condition or injury.” advanced training in neurorehabilitation. A small number of medical institutions offer advanced fellowship training for PM&R physicians practice in a number of clinical settings. PM&R physicians specifically in movement disorders Subspecialties range from brain injury and spinal cord injury neurorehabilitation. to sports medicine, pediatric rehabilitation, and more. PM&R physicians typically work in an interdisciplinary fashion with The DMRF offers a Find a Doctor directory at dystonia- physical therapists, occupational therapists, speech therapists, foundation.org/find-a-doctor and other supportive therapies depending on the needs of patients.

SPRING 2021 7 Official Keith Emerson Tribute Samuel Belzberg 6th Concert Release to Support DMRF International Dystonia Symposium Rescheduled Proceeds from The Official Keith Emerson Tribute Concert disc set, released March 11, 2021, will benefit The Leon Fleisher Foundation Due to Covid-19, the Samuel Belzberg 6th for Musicians with Dystonia, a program of the DMRF. This highly International Dystonia Symposium in Dublin, anticipated concert captures Ireland has been rescheduled for June 1–3, the essence of what made 2023. The scientific meeting is named for Keith Emerson a pioneer of DMRF Co-Founder Samuel Belzberg who progressive rock, a treasure sadly passed away in 2018. Co-Chairs are among his many fans and H. A. “Buz” Jinnah, MD, PhD of Emory University friends, and a legendary School of Medicine and Antonio Pisani, MD, PhD keyboardist and composer of University of Pavia. The symposium is a joint with the iconic supergroup effort of Dystonia Europe and the DMRF. The Emerson, Lake & Palmer. program is designed for clinicians and investi- Emerson died in 2016. gators to provide a comprehensive overview of important scientific advances in the field and The Official Keith Emerson Tribute Concert is available in both DVD stimulate discussion within and across disciplines. Digipak format and in a Blu-Ray Hi-Def download, playable on any The International Dystonia Symposium is the device, both accompanied by a bonus audio version of the concert. seminal international dystonia meeting for The 3-disc set documents the historical 2016 tribute show in Los investigators and clinicians, dating back to 1975. Angeles featuring a once-in-a-lifetime line-up of musical luminaries performing music from Emerson, Lake & Palmer, The Nice, Emerson, Dystonia Support Lake & Powell, The Keith Emerson Band, and the Three Fates Project. Available via Video The 2 1/2-hour concert film features stellar performances by over two Conference & Online dozen prominent artists in rock, jazz, and classical music as well as artist interviews, behind-the-scenes footage, tribute speeches, and a gallery Feeling connected to others in the dystonia of personal never-before-seen photos from the Emerson estate. community can have a profound impact on health, physically and emotionally. DMRF connects you All of the artists, crew, and support personnel kindly donated their to people who understand life with dystonia: skills and time to bring visibility to musician’s dystonia and support • Support Groups – DMRF offers peer support research toward a cure. groups in communities across the USA, many of which are meeting virtually by video The Official Keith Emerson Tribute Concert disc set is available for conference. Search support groups at purchase at: fanfarefortheuncommonman.com dystonia-foundation.org/support-groups

• Online Forums – Online groups are available for specific types of dystonias, musicians, New Resource for Musicians parents, loved ones, young adults, and more. The DMRF has created a private peer support group Find links for online forums at dystonia- on Facebook for musicians affected by dystonia. foundation.org/online

Musicians with Dystonia Support Forum • Individual Support – DMRF is available by facebook.com/groups/musiciansdystonia phone, email, web, and social media to those seeking information and support.

8 DYSTONIA DIALOGUE People on the Move

The DMRF is grateful for the partners and volunteers across the country working to improve dystonia awareness and support medical research. Every effort makes a difference!

“The Singing Chef” Andy LoRusso partnered with DMRF to host “Cooking for a Cure,” a live interactive online cooking event on January 29, 2021. Participants prepared two authentic Italian dishes, cacio e pepe and Sicilian ricotta cheesecake, while crooning classic songs in Italian and English, including Nel Blu Dipinto di Blu (Volare), That’s Amore, and Arriverderci, Roma.

For two years, Andy has been coping with blepharospasm, a focal dystonia that causes uncontrollable blinking and closure of the eyes. “I wanted to give back in hopes of finding a cure,” he said. “It’s also about fun. Cooking and singing, creating a happy, positive mood, bringing family Instead of the annual Chicago Basket together in the kitchen—that’s been my passion Bash, longtime DMRF supporters for 30 years.” Beth Farber and Steve Laser produced Since the 1990s, “The Singing Chef” Andy LoRusso and hosted “Dish for Dystonia” a has performed thousands of shows blending one-episode, online parody cooking food, song, and dance to bring people together. competition to benefit DMRF. Chefs He is the author of the best-selling cookbook Adrienne Sabora, Dani Fingard, Elena and album combo, Sing and Cook Italian, and Tubridy, Jill Povol, and Scott Weisman Sing & Cook with Andy LoRusso the Singing Chef. each prepared a dish to be evaluated by guest judges. The audience voted Andy is donating a portion of proceeds from his for their favorite chef by contributing signature pasta sauces to support the DMRF. a dollar per vote. After a week of Shop at singingchef.com voting, Elena Tubridy earned the most donations and was announced the winner of the challenge. THANK YOU to Social Media Fundraisers Thank you to everyone who generously collects donations to benefit DMRF on social media. Media platforms like Facebook and Instagram provide DMRF with Why is DMRF limited information about these fundraisers, and we wish to acknowledge all Important to You? of our supporters. Plus, social media fundraisers in 2021 will be matched up to 2021 marks the DMRF’s $30,000 by an anonymous donor! 45th anniversary. Please consider sending us a brief video or typed To collect donations for DMRF through Facebook’s fundraiser tools, go to testimonial about why the work facebook.com/fundraisers to get started. Learn how to use Instagram donation of DMRF is important to you. stickers at help.instagram.com For details and instructions, visit dystonia-foundation.org/45 Be sure to notify DMRF of your social media fundraiser to be eligible for the match. Tag or DM us on Facebook or Instagram (@dystoniamrf), or send a message via dystonia-foundation.org/contact

SPRING 2021 9 $17M $18M Department of Defense National research Institutes of Health $37M funding dystonia research invested funding FY2021 in science

GENES DISCOVERED And a Path Forward for Every Family 6,000 DYT1/TOR1A $1.7M savings Since 1976, the Dystonia Medical Research Foundation (DMRF) Global Dystonia DYT6/THAP1 Registry DYT16/PRKRA for Dystonia has led a global effort to advance dystonia research and empower sign-ups DYT25/GNAL Coalition patients and families. 30+ movement The DMRF brought dystonia out of obscurity and into the spotlight of disorder neuroscience and movement disorders research. Thanks to our generous fellows supporters, we continue to uncover dystonia’s mysteries with every new trained # Fulltime Chief Scientific Advisor research discovery. 60 120,000 # Clinical trials DMRF continues to fight for recognition of dystonia as a life-changing neurological peer support Dystonia Pharma disorder in urgent need of research and resources. We bring awareness to policymakers, & online Dialogues # Drug compounds tested pursuing new drugs government institutions, and the general public. groups mailed per year # Molecular pathways mapped For 45 years, the DMRF has helped light a path forward for individuals and families who # Protein structures defined don’t know where to turn after a dystonia diagnosis. No one has to face dystonia in the dark. No one has to face dystonia alone. # 30 scientific meetings

The DMRF’s accomplishments are more than notable bright spots in the organization’s # Advocacy to Congress and policy makers history. Every accomplishment shortens the path to a cure and generates new 270 # 63 Dystonia oo Days opportunities to improve the lives of individuals impacted by dystonia. investgators funded # Free educational materials For more information on the programs and activities of the DMRF, visit dystonia-foundation.org # Personal assistance for every office contact

10 $17M $18M Department of Defense National research Institutes of Health $37M funding dystonia research invested funding FY2021 in science

11 Journeys into Parenthood

The path to becoming a parent for individuals in the dystonia community is as varied as society at large. There are more options than ever for having children: biologically, via reproductive medicine, fostering, and adoption. Parents with dystonia may encounter challenges that parents without health issues might never imagine. Here are two parenthood stories from the dystonia community.

The Downey/Botman Family ••• When John Downey began showing symptoms of dystonia John and Mara Botman started dating in 2013. Mara works at age 13, his parents knew exactly what it was. Because of in non-profits and had lived in Chicago since college. “I was a known family history, John was promptly diagnosed with always very embarrassed about my dystonia, people would DYT1 dystonia, an inherited dystonia that typically begins in look at me funny,” said John. “I intentionally tried very hard childhood and progresses throughout the body and limbs. to hide it from her at first. I would always walk behind her Dystonia caused John’s left foot to turn inward, causing when we were at restaurants or out together because it difficulty walking that worsened as he got older. was a hard conversation to have.”

John relocated from Indiana to Chicago to pursue a career A few dates in, John shared what dystonia was and how it as a software developer. His view of the future included affected his life. Mara was immediately supportive. “My conflicted feelings about having children, both because of biggest goal for John was always figuring out what he the physical demands of parenting and the genetics of DYT1 could do to increase mobility and comfort,” she said. “I was dystonia. Carriers of the gene mutation for DYT1 dystonia fortunate to have a very well-educated partner in John. I did can pass the disorder onto their biological children. “I was go to some of his doctor’s appointments with him, and I was really kind of against having kids because I struggled so always eager to be there. But it was less for an educational much with dystonia, was in pain a lot of the time, and I did experience and more of wanting to advocate for him to not want to bring another person into that,” he said. consider all his options.”

Consulting an internationally recognized movement When the couple started talking about the future and the disorder neurologist in 2012 proved “life-changing.” For possibility of a family, Mara was unfazed by the idea of one, she outlined a treatment plan with several new options consulting a genetic counselor to discuss options for to try including oral medications, botulinum neurotoxin reducing the risk of their children developing dystonia. injections, and, if needed, deep brain stimulation. John “I’m from a Jewish family and genetic counseling is very was surprised when she asked if he had given any thought common in the Jewish community given all the Jewish to family planning. She explained that some families with genetic disorders, so it felt like genetic counseling that I DYT1 dystonia were using in vitro fertilization (IVF) and would do any way,” she said. pre-implantation genetic testing (PGT) to essentially eliminate the risk of future generations being born with the dystonia- Similarly, she was open to learning about IVF and PGT: causing mutation. She encouraged John to contact the “I always assumed I would want children and doing in vitro Dystonia Medical Research Foundation (DMRF) to connect seemed like something that people sometimes did based on with couples who had pursed this option, if he was interested. genetic counseling. None of this seemed particularly extreme. Until this interaction, John explained, “I didn’t understand It seemed much more like a planning hurdle.” the genetics enough to know that IVF and PGT could be a ••• viable option for me. I didn’t even know what PGT was, On Valentine’s Day in 2015, John had deep brain stimula- and I had a loose understanding of IVF.” tion surgery (DBS). “I saw a pretty tremendous response

12 DYSTONIA DIALOGUE What is In Vitro Fertilization? In vitro fertilization (IVF) is a method from that,” he said, in terms of of assisted reproduction that involves reduced dystonia symptoms and combining an egg with sperm in a pain. “It was great for a while. It laboratory. If the egg fertilizes and was really good. We took a lot of becomes an embryo, the embryo trips, we were a lot more active.” is transferred to the uterus where it The couple married in 2016. will hopefully implant in the uterine lining and develop into a successful The success of DBS further pregnancy. convinced John to seriously consider IVF and PGT. “I went on this tear of, yes, everything I What is Pre-implantation can do to leverage science and Genetic Testing? technology to improve my life, Pre-implantation genetic testing (PGT) why wouldn’t I try to leverage is a group of techniques to examine that? After DBS, I even got embryos during in vitro fertilization Lasik,” he laughed. (IVF) for a range of genetic problems before possible transfer to the uterus. John joined the Board of Directors of the DMRF and the These genetic defects include single couple connected with others in gene disorders (such as DYT1 dysto- DMRF Board Member John Downey the dystonia community whose nia), a missing or extra chromosome and Mara Botman welcomed their first families had undergone PGT. in the embryo, or the rearrangement child in 2019. Mara reached out to a friend of genes that can cause pregnancy for a recommendation for an IVF clinic. The consultation with the IVF clinic loss and birth defects. set the process toward parenthood in motion. Embryos free of the genetic IVF is not a single treatment but a series of procedures. PGT is a step in the problems are transferred to the process. An average IVF cycle takes months from the first consultation to— uterus for implantation and, hopefully—a successful pregnancy. The process is complicated and unpre- hopefully, pregnancy. dictable. “A logistical nightmare,” said Mara. She elaborated: “I was going When PGT is used to detect single to a clinic three days a week and getting shots and giving myself shots and gene disorders, a child has a 99%+ getting blood taken and all that stuff. It was a lot of medication in my body, chance of being born without the extending the pregnancy process in a way that I didn’t fully appreciate. I gene mutation for which the embryos also didn’t realize how long it was going take. You have to find the right are screened. doctor. You have to make sure the clinic has capacity for you. You have to order the medication. You have to get the right timing to start the medication.” The first step for individuals who The couple also had to figure out what aspects of the process were covered wish to learn more about PGT is by health insurance and what would be paid out of pocket, very little of to consult a genetic counselor. which was straightforward or even logical. ••• To locate a genetic counselor, Lewis was born in 2019. He was named after Mara’s father who died consider asking your movement when she was 9 years old. “He is a happy, delightful baby,” said Mara. disorder specialist or obstetrician/ “I was very, very sick during both the in vitro process and pregnancy, gynecologist for a recommendation, and so it was a tough year, and then he came, and he’s this delightful consult your health insurance child who loves the world.” provider, or contact a local reproductive health clinic.

SPRING 2021 13 Like many new parents, John jokes the digestive system. The dystonia that he did not entirely anticipate and gastroparesis are caused by how drastically life would change underlying mitochondrial disease, after becoming a dad. Or how a chronic genetic disorder that sweet the rewards would be: occurs when a person’s cells “Every time he snuggles into you cannot produce enough energy or learns something new, it can for the body to function properly. take even the worst day you’re For years she has battled dystonia, having and make it good again.” malnutrition, fatigue, and pain.

Becoming a parent also gave She was a 19-year-old college John a deeper appreciation for student when the health challenges parents of children with dystonia: began with a sudden onset of “When I go back and talk to my dystonia triggered by medication. parents, I feel a little bit closer Despite recurrent illness and to what they were going through. hospitalizations, the mitochondrial Until I had a child I never would disease would remain undiagnosed have been close to understanding until she was in her 30s. In the how painful it is to have your meantime, she adapted to using child struggle with something a wheelchair for mobility, got a like dystonia.” A second DBS service dog, and married her procedure in 2018 helped control husband Greg in 1999, shortly the increasing dystonia symptoms DMRF Support Leader Jenelle Dorner is pictured after she finished her Bachelor’s with son Leif and service dog Herbie. John began noticing in the years degree. before Lewis was born. Jenelle obtained a Master’s degree in motor control kinesi- At the time of the interview for this article, Lewis was a year ology and got to work toward a PhD in neuroscience. The and a half old. He was learning lots of new words, loved demands of graduate studies were grueling, but ironically books, and enjoyed woofing at dogs encountered on walks some of her chronic symptoms stabilized when she became in the neighborhood. pregnant. “I was so healthy during my pregnancy that it was kind of crazy,” said Jenelle. “At that time, I didn’t have the Mara reflected, “I was sitting in a room with a lot of board mitochondrial disease diagnosis, but we knew I had dystonia games and I think about the Candy Land game and Chutes and my dystonia was a lot better.” and Ladders—for us, becoming parents was very much this ••• complicated journey as opposed to a straight line. That’s Leif was born in 2005. He was named after one of Jenelle’s how I think about it: three steps forward, one step back, mentors, a reproductive physiologist who would push her but eventually you get there. And it’s all worth it.” around his farm in a wheelbarrow when the mud was too thick for her wheelchair. The Dorner Family “There are unique aspects of parenting with a disability Given a history of unusual drug reactions, Jenelle said she that somebody without a disability isn’t going to have to was “adamant” about not having an epidural or medications think about, and that’s okay. We just have to figure it out,” during delivery. She prepared for a natural birth, enlisting explained Jenelle Dorner. Jenelle is a longtime DMRF the help of a labor coach. After 22 hours of labor her son came supporter and moderator of Parenting with Dystonia, into the world weighing well over 9 lbs. “Looking back on a private Facebook group created by DMRF. it, I have no idea how I did it, or really what the heck I was thinking!” laughed Jenelle. Jenelle is diagnosed with dystonia and gastroparesis, a disorder that prevents food from moving normally through

14 DYSTONIA DIALOGUE At home, Jenelle and Greg got creative about accessible Jenelle and Herbie would do presentations to Leif’s parenting. They had a crib that swung open sideways and class each year. “Service dogs are a big catalyst to social a changing table that could be lowered to the floor in case interaction and teaching kids about disabilities,” said Jenelle. Jenelle didn’t feel she could lift Leif safely. “My wheelchair “I think that made Leif feel okay about his mom, and for the was an asset because I could put a baby sling on and he other kids to feel okay about peers that had disabilities— was right there in my lap, or eventually he could climb into and to learn about service dogs. It was fun.” my lap and I didn’t have to worry about picking him up as much,” she said. “This is kind of funny, but when he was As Leif grew older, the resources Jenelle counted on for really tiny, I would put him in the laundry basket and drag assistance evolved. Her parents and in-laws have been the laundry basket around the house.” Greg was able to ongoing sources of support. Her mother, an expert in special work part-time temporarily after Leif was born. Then they education, was especially helpful with navigating how to hired a nanny to help occasionally with housework and communicate with Leif in an age appropriate way when caring for Leif. challenges or issues came up. As needed, Jenelle and Greg involved Leif in play therapy, cognitive behavioral therapy, When Leif was two years old, Jenelle was hospitalized with and other therapeutic activities to build resilience. life-threatening complications from mitochondrial disease. ••• She was in intensive care for two months. She recalled, Leif is now 15 years old. He is a big help to his mom, whether “That’s the first time I remember thinking, wow, I don’t by doing laundry or walking the dogs. They read together know if I’m going to be here for Leif, and it was really in their own little book club and have in-depth philosophical important to me to be here, on Earth, to parent him.” conversations. ••• Jenelle remained passionate about a career in neuroscience, Jenelle has weathered numerous feeding tube surgeries but slowed the pace of her research to spend more time with and complications, intravenous feeding to her heart, immu- her son. “After I got my PhD,” she said, “I was completely noglobulin (IVIG) infusions to fortify her immune system, and IV-fed, plus fluids, and I was having respiratory problems, years of trial and error with medications and supplements. all kinds of mitochondrial disease symptoms, and I realized At the time of this article, she was anticipating yet another it’s going to get worse if I keep stressing myself like this. surgery to fix a painful stomach tube. I went on postdoc interviews, and I was thinking I can’t do this.” Jenelle decided to focus on stabilizing her health and “Parenthood is very challenging, but it’s something that can being a mom. “I felt this intense loss, like I lost my intended be empowering and provide growth to your soul, to you as career, and I was very depressed when that happened. an individual and your understanding of other human beings Yet motherhood gave me purpose and helped me find new in the world, because you are nurturing someone else,” said things in my life that I wouldn’t have had if Leif wasn’t there.” Jenelle. “Not everyone has that desire, and that’s okay. We all have our own journey. But if you do have the desire and the Multiple prolonged hospitalizations when Leif was a toddler willingness to put your heart into loving a child, and learning were the most difficult times. Jenelle explained, “When kids through those challenges and hardships that are inherent to life are that little, like between two and five, they don’t under- or living with a disability, it can be a very a wonderful journey.” stand what’s happening, and they don’t know why you left them. They think you left them. And at times I did.” She came to recognize those separations as opportunities to strengthen Support for Parents their relationship: “We’ve been forced to take these little Connect with other parents in the dystonia breaks when I’ve been sick, or there was a time he was in the community by joining DMRF’s private hospital and I was at home missing him, and it makes Facebook group: you recognize how important you are to each other.” Parenting with Dystonia When Leif was old enough to attend school, he enjoyed facebook.com/groups/dmrf.parenting introducing the other kids to Jenelle’s service dog Herbie.

SPRING 2021 15 Becoming a Mom My Experience with Gestational Surrogacy By Allison London, DMRF Board of Directors

Spoiler alert: This story has a very happy ending.

I am a mom. I. Am. A. Mom. Those four words once seemed like a given, but then dystonia hit. Diagnosed at 30 with truncal dystonia, I was at the time physically unable to care for myself let alone a child, even with lots of assistance. Yet the possibility of not being a mother did not really sink in until a year later, when my movement disorder specialist confirmed what we already knew deep down: I should not (or was it could not?) carry a pregnancy.

The reasons why made so much sense—from my forward flexing posture and spasms posing potentially serious risks to both me and the fetus, to the unknown effects on pregnancy of deep brain stimulation (DBS), which I was hoping to undergo. Still it was the second biggest gut punch of my life, the first being the dystonia diagnosis itself.

Dystonia had taken a lot from my husband Dan and me in the five years since it had crept into our lives. But parenthood was non-negotiable. Two weeks later I was in a fertility doctor’s office discussing gestational surrogacy. A gestational DMRF Board Member Allison London with husband Dan and daughter Daisy. surrogate (or carrier) is a woman who carries a pregnancy that is not biologically her own. That is the path we chose to take. agency captured us with their incredibly thorough carrier screening process and additional services. We retained them. To create embryos, we started the process of in vitro fertilization (IVF). Different than typical IVF, though, the embryo While they went to work, we did too, with marching orders created would ultimately be transferred into the gestational given to us by the agency. We spoke with their lawyer about carrier’s uterus instead of my own. The embryos we made the legal aspects of gestational surrogacy. We spoke with were frozen, waiting to be used post-DBS when my dystonia a high-risk obstetrician since IVF pregnancies can cause would, hopefully, be improved. complications. We spoke with the agency’s psychologist. We created a profile about ourselves for potential carriers Nine months later I underwent DBS surgery and, 10 months to review. Then we waited. after that, we were ready to start trying. We now had to choose a surrogacy agency, essential for many reasons, On September 11, 2013, one year to the day of my DBS chief among is that it is the agency’s job to find the right surgery, we met our would-be carrier at the agency’s carrier. Our fertility doctor had relationships with two highly “match meeting.” It was surreal. We were there to decide reputable agencies. After researching, we scheduled an whether this stranger was the right woman to entrust with appointment to meet with one. At that first meeting, the the biggest responsibility we had ever asked of anyone.

16 DYSTONIA DIALOGUE Two days later we decided to move forward. Sadly, after three embryo transfers, she did not become pregnant, and according to stipulations in our contract, the agreement was terminated. We were inconsolable, a feeling that had become all too common, but we were not giving up. We waited. Again.

Two months later we met Iesha, the woman who will forever have our gratitude. I went through additional rounds of IVF egg harvesting to create more embryos. Iesha got pregnant. Dan and I shouted the news from the rooftops, including that our daughter was in another woman’s belly. Though I was unable to drive and uncomfortable in long car rides, I did not miss an obstetrician appointment. We texted frequently and got to know her kids, who found out we were having CREATE A a girl before our own family did. We appeared before a judge in Family Court to LEGACY OF CARING obtain a pre-birth order, naming Dan and me our unborn daughter’s parents. The DMRF Legacy Society Our agency did so much behind the scenes including making the hospital aware was created to recognize this was a gestational surrogacy situation and all that entailed. The hospital was those who have made a informed that we wanted our last name on our daughter’s medical bracelet and lifetime commitment to the bassinet upon birth, and that we would like a room at the hospital of our own, mission against dystonia. to spend that first night with her. The due date was getting closer and our There are a number of planned obstetrician let us know that he thought our daughter would arrive a few days giving options to build a early. We got a hotel room near the hospital and waited. On December 27, 2015, legacy through the DMRF, Dan and I were in the delivery room at Iesha’s side as our daughter came into either by joining our Legacy the world. Dan cut the umbilical cord. Lots of tears were shed. Our entire family, Society or making a specific as well as Iesha’s, were gathered in the waiting room. gift. You can make a commitment of support today that Choosing to start a family via gestational surrogacy is a decision fraught with is fulfilled in the future. sleepless nights. It is expensive and a true test of your determination and relationship. But if like me, you do not want dystonia to define you, this may R Wills & Bequests be a viable option. R Life Income Gifts: Charitable Trusts & After all, I am a mom and Dan is a dad. Our daughter, Daisy, is sunshine personified, Gift Annuities our seemingly impossible wish come true. R Qualified Retirement Plans R Real Estate

DMRF Merchandise to For more information, Promote Awareness please contact Have you checked out the DMRF online store Director of Development lately? You’ll find many practical items to Debbie Durrer at promote dystonia awareness: face masks, [email protected] tote bags, pop sockets, pins, key chains, and or visit dystonia-foundation. more. For details and to order visit: org/legacy dystonia-foundation.org/merch

SPRING 2021 17 PERSONAL PROFILE Amber Hall

Eighteen-year-old Amber Hall is a high school senior in Florida. She was born extremely premature, weighing just 1 lb, 12 ounces, which resulted in cerebral palsy (CP), dystonia, and hearing impairment.

What is a typical day for you? How have you been coping during the pandemic? Cerebral palsy (CP) is a group of disorders that I’ve been doing virtual online classes. At first it was a bit of affect a person’s ability to move and maintain a struggle because I was used to actual school, my regular balance and posture. CP is caused by changes classes. I have a job at a small farm. I have a stand where I in brain development or damage to the developing sell my fruits and vegetables on Saturday mornings, now brain that affect a person’s ability to control their that the markets are open again. I’m graduating this year muscles. CP is the leading cause of dystonia and then off to college and probably I’ll get a second job. in children.

I’ve also been doing this other thing, which is amazing, and Complementary & Integrative Therapies it’s called Taekwondo. I started doing Taekwondo in July. It The DMRF encourages individuals with dystonia to has done so many things for me. Physically, I’ve been doing consult their doctor about non-traditional therapies very well. It helps me to be more mindful about my body. they may be interested in pursuing including dietary Master Lee helped me align my spine, I learned the pressure supplements, products, and mind-body practices. points of my body, and he helped me walk better. I take Information about the use of complementary stretching very seriously. I never had heel-toe movement in therapies for dystonia is available at: my ankles before Taekwondo. I never had sensation in the dystonia-foundation.org/complementary-therapy/ back of my calves. I am building muscle. I never really had muscle control in my legs, but now I do, which was a great achievement and it’s really awesome. take control of my muscles without falling, getting jerking movements, or being startled. It has also helped me How I got going with Taekwondo in the pandemic is: we emotionally and helps me speak better. I have confidence went to four specialists to see about a tendon repositioning and motivation. I sleep better. Since I started Taekwondo procedure in my legs, but they said no because of the I don’t get these awful cramps in my legs and my toes. dystonia. We decided to go to Taekwondo and see if it My toes used to fold underneath when I walked. Now they could help. We found out that Master Lee’s brother has CP, are flat and I can control them and wiggle them and paint and he helped his brother with rehab when he was young. my toenails. I can keep the polish on the nails because I Every week his understanding about my body gets better. don’t walk on my toes anymore. At first I even struggled He’s amazing in his knowledge, and I work very hard. I with taking off my uniform. I had to do it over and over have been going three days a week. Jumping was another again until I could get it off finally, but now I don’t struggle thing that I started doing. I learned how to jump during with it. the pandemic. What therapies or interventions have helped you? I practice real Taekwondo moves, like kicking, blocking, I used to take medicines, baclofen and Artane® and punching, about one day a week, and the other days [trihexyphenidyl]. Artane® helped me get balance and are focused on learning how to place my body in space stop my jerky movements, but there were side effects. and keep my balance. Trying to rehabilitate my brain to Now the only thing I take is CBD oil [cannabidiol] and

18 DYSTONIA DIALOGUE me emotionally and mentally. When I was like nine or eight, I knew I had a disability but I felt I was still like every other kid. As I got older, like middle school and high school, I became more aware of how other people felt around me because I had CP. It’s 50/50. Either they bully you or they take it seriously and try to be nice to you. I had very challenging problems with bullies in high school. That’s when I started focusing on things that help me cope through these problems. I had arts, music, family, and my mom—she’s the best. My mom took me to private school junior year. It’s my second year there. Before the pandemic hit, I was independent for the first time. It was amazing. I met a lot of kids there. I have a troubled time trusting people. I made one or two friends. I’m fine with that. Private school was amazing. It made me feel like I’m an average high schooler.

I was mainstreamed with a para [classroom assistant] in sixth grade. Before that I was in the deaf and hard-of- hearing classes. My para was awesome in middle school. But at the same time I was struggling because I wanted to be free. I didn’t want anybody helping me. Now I am independent, and I’m happy.

I want to become a digital artist and a comic book illustrator. I like doing portraits and cartoons. I love movie posters, especially old ones. One of my favorite all-time movies is Amber Hall studies Taekwondo with Grandmaster Chu Halloween, the classic 1978 one. I also like Friday the 13th Young Lee. Taekwondo is an ancient Korean martial art. from the 1980s. As I kid I loved Looney Tunes and The Three Stooges. I also take cartoon shows seriously. Especially from some teas, naturopathic things that maybe relax muscles. around the late 1990s and the 2000s. I get inspiration from I used a walker until I was six years old. Then I started them, like Invader Zim and SpongeBob SquarePants. I love using the walker like a skateboard, and they took it away. my mom’s art books. My art is a combination of things. I love skateboards. I wish I could ride one. My physical It’s either dark humor or comedy, like slapstick comedy. therapist was very hands-on and she would strap my legs Sometimes it’s venting my feelings. It helps me cope with to her legs and we’d ride the skateboard down the street anxiety. I also want to become an animator in movies. together and go to the park. I wore AFOs with SMO inserts, and twister cables to keep my knees apart. And some night- What are you most proud of? ® time bracing and casting and Botox and so many things I’m proud of what I am doing with Taekwondo: balancing, throughout the years. And then conductive education— walking, thinking, speaking, and having conversations with summer camp for CP and other people who are struggling people, trying to be very aware. I’m proud I’m alive. I’m with mobility. I had an occupational therapist who helped proud that I am independent and strong and determined. me a lot with my feelings and thinking skills and executive Focus is the number one thing. Number two is determination. functioning skills. The greatest challenge I overcame was bullying. Always speak up for yourself and be an advocate for yourself, What impact has CP and dystonia had on your life? and you can help others too. Be kind. I have had CP and dystonia for my whole life. It affected me more as I became more aware about myself. It also affected

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